Assessment of Genetics Mutations G1529A and G1168A in PK-LR gene in Neonatal Jaundice

Abstract

Introduction: Pyruvate kinase (PK) deficiency is the most frequent red cell enzymatic defect responsible for hereditary non-spherocytic hemolytic anemia. It is one of the etiologic factors in newborns with jaundice. The aim of this study is to determine the prevalence of pyruvate kinase deficiency in Azeri population from North-West of Iran. Materials and Methods: In this descriptive study, 200 newborns with non-conjugated hyperbilirubinemia were included from a total of 1750 admitted newborns in 3 rd referral university hospital. Routine Lab results were collected from hospital records. PK activity was determined by Coupled Enzyme Assay with using the ELISA technique. Results: The normal range of pyruvate kinase activity in 30 healthy samples of umbilical cord blood determined from 3.52-8.45 miliunit. In 32 out of 200 newborns (16%), there was more than 60% decrease in PK activity. Conclusion: This study shows a relatively high prevalence of PK deficiency in newborns with jaundice in north western Iran. Further molecular studies are recommended in this population.